Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5 - 4 Hz spike - wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12 - p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD 3.54, a 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum nonparametric linkage score was 2.87 (P > 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants.

Linkage and association analysis of CACNG3 in childhood absence epilepsy / Everett KV; Chioza B; Aicardi J; Aschauer H; Brouwer O; Callenbach P; Covanis A; Dulac O; Eeg-Olofsson O; Feucht M; Friis M; Goutieres F; Guerrini R; Heils A; Kjeldsen M; Lehesjoki AE; Makoff A; Nabbout R; Olsson I; Sander T; Sirén A; McKeigue P; Robinson R; Taske N; Rees M; Gardiner M.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 15 (4):(2007), pp. 463-472. [10.1038/sj.ejhg.5201783]

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

GUERRINI, RENZO;
2007

Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5 - 4 Hz spike - wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12 - p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD 3.54, a 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum nonparametric linkage score was 2.87 (P > 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants.
2007
15 (4)
463
472
Everett KV; Chioza B; Aicardi J; Aschauer H; Brouwer O; Callenbach P; Covanis A; Dulac O; Eeg-Olofsson O; Feucht M; Friis M; Goutieres F; Guerrini R; Heils A; Kjeldsen M; Lehesjoki AE; Makoff A; Nabbout R; Olsson I; Sander T; Sirén A; McKeigue P; Robinson R; Taske N; Rees M; Gardiner M.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/317430
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